Exploratory Phosphoproteomic Study to Discover DYRK1A-Dependent Blood Biomarkers in TriSomy 21 Carriers

Status: Completed
Location: See all (9) locations...
Intervention Type: Biological
Study Type: Observational
SUMMARY

One of the major causes of cognitive disorders limiting the learning abilities of children with Down's syndrome is excess activity of the DYRK1A protein kinase, whose gene is located on chromosome 21. Consequently, variations in the level of phosphorylation, and hence activity, of DYRK1A target proteins involved in synaptic transmission, could identify mechanisms underlying these cognitive disorders. Several studies have shown that plasma proteins can reflect a pathophysiological brain state. The investigators plan to carry out a phosphoproteomic study to determine the phosphorylation profile of plasma proteins in children with Down's syndrome, and identify potential DYRK1A-dependent pathophysiological mechanisms and biomarkers involved in the natural course of cognition in children with Down's syndrome.

Eligibility
Participation Requirements
Sex: Male
Minimum Age: 6
Maximum Age: 12
Healthy Volunteers: f
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• Clinical diagnosis of free and homogeneous trisomy 21,

• Body mass index (BMI): 15-25,

• Able to understand the study based on the pictorial information leaflet and give agreement/assent to participate,

• Parent present on the day of the visit to validate their child's consent/assent, if applicable.

Locations
Other Locations
France
CHRU de Brest
Brest
CHU Grenoble
Grenoble
Medilab
La Châtaigneraie
Hospices Civils de Lyon
Lyon
Medilab
Niort
Institut Jérôme Lejeune
Paris
Medilab
Parthenay
CHU Rennes
Rennes
CHU Saint-Etienne
Saint-etienne
Time Frame
Start Date: 2024-03-18
Completion Date: 2025-04-16
Participants
Target number of participants: 60
Treatments
Children with Down Syndrome
30 boys with Down Syndrome, between 6 and 12 years old, coming for a routine car consultation during which blood sampling is scheduled (6 different care dedicated centers).
Children without genetic abnormality
30 boys without genetic abnormality, between 6 and 12 years old, coming to an analysis laboratory for a blood test (3 different laboratories)
Related Therapeutic Areas
Sponsors
Collaborators: Proteas Bioanalytics, Göteborg University
Leads: Perha Pharmaceuticals

This content was sourced from clinicaltrials.gov